New Approaches Open up in Spinal Muscular Atrophy

New Approaches Open up in Spinal Muscular Atrophy

PR Newswire | June 6, 2011

BOSTON, June 6, 2011 /PRNewswire-USNewswire/ — Spinal muscular atrophy (SMA) is the leading genetic cause of death in children under 2, with no treatment other than supportive care. In the Proceedings of the National Academy of Sciences (Early Edition, week of June 6), researchers at Children’s Hospital Boston show how loss or mutation of the SMA gene causes progressive muscle degeneration and weakness, and suggest a promising approach to treating the condition, sometimes referred to as a “Lou Gehrig’s disease of babies.”

Spinal muscular atrophy, or SMA, affects one in every 1 in 6,000-10,000 infants, but an estimated 1 in 35-40 people are carriers, according to the SMA Foundation. Infants with SMA are born with low muscle tone, and in many cases are too weak to breathe and swallow on their own; they usually die from respiratory failure.

The new findings reveal that loss of the SMA gene – and resulting depletion of a protein called SMN – makes nerve fibers from the spinal cord unable to navigate toward and form synapses (connections) with the muscles they’re meant to control. But they also demonstrate that this problem could be reversed in a zebrafish model of the disease.